Diagnostic Dilemma

Neuroregression


Author: Pediatric Oncall
Question
A 9 months old boy born of third degree consanguineous marriage presented with loss of milestones after 4 months of age. At 4 months of age, the child had social smile with partial head holding. He had fever that lasted for one month following which he lost the milestones and had not achieved any new milestones. MRI brain was done at 6 months of age which showed hypomyelination. There were no convulsions, altered sensorium ever. He was a full term normal delivery with birth weight of 2.5 kg with no antenatal or postnatal complications. He was immunized till age. On examination, he had no dysmorphic features, had spasticity, cortical thumb and brisk reflexes. Other systems were normal. Investigations showed:
• Hearing = Normal
• Funduscopy = Bilateral optic atrophy
• Hemoglobin = 12 gm/dl, WBC = 12,000/cumm (56% polymorphs, 44% lymphocytes), Platelets = Adequate.
• Serum CPK, liver transaminases, electrolytes, blood gases = Normal
• Random blood sugar = 153 mg%
• Serum ammonia = Normal


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